Variant report

Variant	rs2817866
Chromosome Location	chr1:71503447-71503448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71499849..71501736-chr1:71503385..71504973,2	K562	blood:
2	chr1:71499543..71503702-chr1:71511179..71513554,5	K562	blood:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10399704	0.83[ASN][1000 genomes]
rs10399705	0.83[ASN][1000 genomes]
rs10399706	0.83[ASN][1000 genomes]
rs10399797	0.83[ASN][1000 genomes]
rs11209736	0.83[ASN][1000 genomes]
rs11209739	0.87[ASN][1000 genomes]
rs11209740	0.85[ASN][1000 genomes]
rs12139719	0.83[ASN][1000 genomes]
rs12139935	0.83[ASN][1000 genomes]
rs12739047	0.83[ASN][1000 genomes]
rs12739685	0.87[ASN][1000 genomes]
rs12756951	0.83[ASN][1000 genomes]
rs12757161	0.83[ASN][1000 genomes]
rs2250312	0.85[ASN][1000 genomes]
rs2284362	0.89[ASN][1000 genomes]
rs2300178	0.84[ASN][1000 genomes]
rs2744915	0.86[ASN][1000 genomes]
rs2817864	0.87[ASN][1000 genomes]
rs2817865	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5680	0.86[ASN][1000 genomes]
rs8179367	0.82[ASN][1000 genomes]
rs8179390	0.84[ASN][1000 genomes]
rs8179408	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71492800-71504400	Weak transcription	Gastric	stomach
2	chr1:71496000-71506200	Weak transcription	Fetal Stomach	stomach
3	chr1:71497600-71510600	Weak transcription	Aorta	Aorta
4	chr1:71499000-71505800	Weak transcription	NHDF-Ad	bronchial
5	chr1:71502600-71503600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:71502800-71503600	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:71503000-71505000	Genic enhancers	K562	blood
8	chr1:71503000-71511200	Weak transcription	Pancreas	Pancrea
9	chr1:71503200-71504200	Weak transcription	Adipose Nuclei	Adipose
10	chr1:71503200-71506000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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